Li M, Squire J A, Weksberg R
Department of Pediatrics, Hospital for Sick Children and University of Toronto, Ontario, Canada.
Am J Med Genet. 1998 Oct 2;79(4):253-9.
Wiedemann-Beckwith syndrome (WBS) is a heterogeneous overgrowth syndrome associated with malformations and an elevated risk of developing embryonal tumors. WBS is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes within the 11p15 region. Elucidation of the genetic cause of WBS will provide important insights into the molecular and epigenetic changes associated with loss of normal growth control and cancer in this syndrome. Currently available protocols for diagnostic testing, patient monitoring and genetic counselling will evolve as our understanding of the molecular basis of WBS progresses.
威德曼-贝克威思综合征（WBS）是一种异质性过度生长综合征，与畸形以及发生胚胎性肿瘤的风险升高相关。WBS是一种多基因疾病，由11p15区域内印记生长调节基因的失调引起。阐明WBS的遗传原因将为深入了解该综合征中与正常生长控制丧失和癌症相关的分子及表观遗传变化提供重要见解。随着我们对WBS分子基础的理解不断进步，目前可用的诊断测试、患者监测和遗传咨询方案也将不断发展。
